Associated Papers
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity.
Lei JJ et al.
Frontiers in Genetics, 2024
The diagnosis of acute intermittent porphyria combined with seizures: Case report.
Wang Z et al.
Medicine, 2023
Acute hepatic porphyrias: Recommendations for diagnosis and management with real-world examples.
Moghe A et al.
Molecular Genetics and Metabolism, 2023
A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria.
Malagon-Rangel J et al.
Clinical Case Reports, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
American Journal of Human Genetics, 2023
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.
van Loggerenberg W et al.
Biorxiv : the Preprint Server for Biology, 2023
Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review.
Ren Y et al.
Frontiers in Genetics, 2023
Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.
Wang X et al.
Frontiers in Genetics, 2023
A case report of acute intermittent porphyria leading to severe disability.
Lin J et al.
Frontiers in Neurology, 2023
Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function.
Christie MS et al.
Febs Open Bio, 2022
Cutting-Edge Therapies and Novel Strategies for Acute Intermittent Porphyria: Step-by-Step towards the Solution.
Longo M et al.
Biomedicines, 2022
Givosiran in acute intermittent porphyria: A personalized medicine approach.
Poli A et al.
Molecular Genetics and Metabolism, 2022
Identification and molecular analysis of 17 novel variants of hydroxymethylbilane synthase in Chinese patients with acute intermittent porphyria.
Hu Y et al.
Clinical Genetics, 2022
Acute Intermittent Porphyria as a Rare Challenging Neuro-Metabolic Disease; a Case Report.
Abed E et al.
Archives of Academic Emergency Medicine, 2022
Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators.
Bustad HJ et al.
International Journal of Molecular Sciences, 2021
Recent advances in the epidemiology and genetics of acute intermittent porphyria.
Ma L et al.
Intractable & Rare Diseases Research, 2020
Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.
Morán-Jiménez MJ et al.
Genes, 2020
Penetrance and predictive value of genetic screening in acute porphyria.
Baumann K et al.
Molecular Genetics and Metabolism, 2020
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Barman-Aksözen J et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2019
Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.
Goncharova M et al.
Clinical Genetics, 2019
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.
Lenglet H et al.
Human Molecular Genetics, 2018
Validation and evaluation of two porphobilinogen deaminase activity assays for diagnosis of acute intermittent porphyria.
Lin CN et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2018
Acute intermittent porphyria in Argentina: an update.
Cerbino GN et al.
Biomed Research International, 2015
Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP).
Dragneva S et al.
Jimd Reports, 2014
Marked geographic aggregation of acute intermittent porphyria families carrying mutation Q180X in Venezuelan populations, with description of further mutations.
Paradisi I et al.
Journal of Inherited Metabolic Disease, 2010
[Molecular genetic study of acute intermittent porphyria in Russia: mutation analysis and functional polymorphism search in porphobilinogen deaminase gene].
Surin VL et al.
Genetika, 2010
Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis.
Ulbrichova-Douderova D et al.
Analytical Biochemistry, 2009
Acute intermittent porphyria--impact of mutations found in the hydroxymethylbilane synthase gene on biochemical and enzymatic protein properties.
Ulbrichova D et al.
The Febs Journal, 2009
HMBS mutations in Chinese patients with acute intermittent porphyria.
Yang CC et al.
Annals of Human Genetics, 2008
Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.
To-Figueras J et al.
Journal of Inherited Metabolic Disease, 2006
May 2006 update in porphobilinogen deaminase gene polymorphisms and mutations causing acute intermittent porphyria: comparison with the situation in Slavic population.
Hrdinka M et al.
Physiological Research, 2006
De Novo mutation found in the porphobilinogen deaminase gene in Slovak acute intermittent porphyria patient: molecular biochemical study.
Ulbrichova D et al.
Physiological Research, 2006
Characterization of two isoalleles and three mutations in both isoforms of purified recombinant human porphobilinogen deaminase.
Brøns-Poulsen J et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2005
Correction of the biochemical defect in porphobilinogen deaminase deficient cells by non-viral gene delivery.
Johansson A et al.
Molecular and Cellular Biochemistry, 2003
Gene-environmental interactions: Lessons from porphyria.
Sassa S
Environmental Health and Preventive Medicine, 2003
Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.
Kauppinen R et al.
Clinical Chemistry, 2002
Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.
Floderus Y et al.
Clinical Genetics, 2002
[Three new mutations in the porphobilinogen deaminase gene, detected in acute intermittent porphyria patients from Russia].
Surin VL et al.
Genetika, 2001
Acute intermittent porphyria: expression of mutant and wild-type porphobilinogen deaminase in COS-1 cells.
Mustajoki S et al.
Molecular Medicine (cambridge, Mass.), 2000
[The initial results of detecting mutations in the gene of the porphobilinogen deaminase enzyme in patients with acute intermittent porphyria in Russia].
Pivnik AV et al.
Terapevticheskii Arkhiv, 2000
Acute intermittent porphyria: characterization of two novel mutations in the porphobilinogen deaminase gene, one amino acid deletion (453-455delAGC) and one splicing aceptor site mutation (IVS8-1G>T).
De Siervi A et al.
Human Mutation, 1999
Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations.
Whatley SD et al.
Human Genetics, 1999